LOCUS       NM_003907               2562 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens eukaryotic translation initiation factor 2B subunit
            epsilon (EIF2B5), mRNA.
ACCESSION   NM_003907
VERSION     NM_003907.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2562)
  AUTHORS   Nourmohammadi,P., Asadollahi,M., Karamzade,A., Eshaghkhani,Y.,
            Babaei,M., Golchehre,Z., Taheri,S.R., Hasani,S., Taghizadeh,M. and
            Keramatipour,M.
  TITLE     A novel missense variant in EIF2B5 identified in a consanguineous
            Iranian family with vanishing white matter disease and a brief
            review of the literature
  JOURNAL   J Genet 102 (2023)
   PUBMED   37674283
  REMARK    GeneRIF: A novel missense variant in EIF2B5 identified in a
            consanguineous Iranian family with vanishing white matter disease
            and a brief review of the literature.
            Review article
REFERENCE   2  (bases 1 to 2562)
  AUTHORS   He,S.L., Zhao,X. and Yi,S.J.
  TITLE     CircAHNAK upregulates EIF2B5 expression to inhibit the progression
            of ovarian cancer by modulating the JAK2/STAT3 signaling pathway
  JOURNAL   Carcinogenesis 43 (10), 941-955 (2022)
   PUBMED   35710311
  REMARK    GeneRIF: CircAHNAK upregulates EIF2B5 expression to inhibit the
            progression of ovarian cancer by modulating the JAK2/STAT3
            signaling pathway.
REFERENCE   3  (bases 1 to 2562)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2562)
  AUTHORS   Keefe,M.D., Soderholm,H.E., Shih,H.Y., Stevenson,T.J.,
            Glaittli,K.A., Bowles,D.M., Scholl,E., Colby,S., Merchant,S.,
            Hsu,E.W. and Bonkowsky,J.L.
  TITLE     Vanishing white matter disease expression of truncated EIF2B5
            activates induced stress response
  JOURNAL   Elife 9, e56319 (2020)
   PUBMED   33300869
  REMARK    GeneRIF: Vanishing white matter disease expression of truncated
            EIF2B5 activates induced stress response.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2562)
  AUTHORS   Kimball,S.R., Heinzinger,N.K., Horetsky,R.L. and Jefferson,L.S.
  TITLE     Identification of interprotein interactions between the subunits of
            eukaryotic initiation factors eIF2 and eIF2B
  JOURNAL   J Biol Chem 273 (5), 3039-3044 (1998)
   PUBMED   9446619
REFERENCE   6  (bases 1 to 2562)
  AUTHORS   Welsh,G.I., Miller,C.M., Loughlin,A.J., Price,N.T. and Proud,C.G.
  TITLE     Regulation of eukaryotic initiation factor eIF2B: glycogen synthase
            kinase-3 phosphorylates a conserved serine which undergoes
            dephosphorylation in response to insulin
  JOURNAL   FEBS Lett 421 (2), 125-130 (1998)
   PUBMED   9468292
REFERENCE   7  (bases 1 to 2562)
  AUTHORS   Asuru,A.I., Mellor,H., Thomas,N.S., Yu,L., Chen,J.J., Crosby,J.S.,
            Hartson,S.D., Kimball,S.R., Jefferson,L.S. and Matts,R.L.
  TITLE     Cloning and characterization of cDNAs encoding the epsilon-subunit
            of eukaryotic initiation factor-2B from rabbit and human
  JOURNAL   Biochim Biophys Acta 1307 (3), 309-317 (1996)
   PUBMED   8688466
REFERENCE   8  (bases 1 to 2562)
  AUTHORS   Welsh,G.I., Miyamoto,S., Price,N.T., Safer,B. and Proud,C.G.
  TITLE     T-cell activation leads to rapid stimulation of translation
            initiation factor eIF2B and inactivation of glycogen synthase
            kinase-3
  JOURNAL   J Biol Chem 271 (19), 11410-11413 (1996)
   PUBMED   8626696
REFERENCE   9  (bases 1 to 2562)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 2562)
  AUTHORS   van der Knaap,M.S., Fogli,A., Boespflug-Tanguy,O., Abbink,T.E.M.
            and Schiffmann,R.
  TITLE     Childhood Ataxia with Central Nervous System Hypomyelination /
            Vanishing White Matter
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301435
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC013590.1 and AC131235.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2018 this sequence version replaced NM_003907.2.
            
            Summary: This gene encodes one of five subunits of eukaryotic
            translation initiation factor 2B (EIF2B), a GTP exchange factor for
            eukaryotic initiation factor 2 and an essential regulator for
            protein synthesis. Mutations in this gene and the genes encoding
            other EIF2B subunits have been associated with leukoencephalopathy
            with vanishing white matter. [provided by RefSeq, Nov 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.231381.1,
                                           SRR1803612.95745.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648915.2/ ENSP00000497160.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1786              BC013590.1         23-1808
            1787-1897           AC131235.4         68242-68352         c
            1898-2023           AC131235.4         67583-67708         c
            2024-2134           AC131235.4         67100-67210         c
            2135-2529           AC131235.4         66529-66923         c
            2530-2562           AC131235.4         66496-66528         c
FEATURES             Location/Qualifiers
     source          1..2562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..2562
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /note="eukaryotic translation initiation factor 2B subunit
                     epsilon"
                     /db_xref="GeneID:8893"
                     /db_xref="HGNC:HGNC:3261"
                     /db_xref="MIM:603945"
     exon            1..223
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..2194
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /note="translation initiation factor eIF-2B subunit
                     epsilon; eIF-2B GDP-GTP exchange factor subunit epsilon;
                     eukaryotic translation initiation factor 2B, subunit 5
                     epsilon, 82kDa; eIF2B GDP-GTP exchange factor subunit
                     epsilon"
                     /codon_start=1
                     /product="translation initiation factor eIF2B subunit
                     epsilon"
                     /protein_id="NP_003898.2"
                     /db_xref="CCDS:CCDS3252.1"
                     /db_xref="GeneID:8893"
                     /db_xref="HGNC:HGNC:3261"
                     /db_xref="MIM:603945"
                     /translation="MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQ
                     AVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTLEFLTATGVQETFVFCCWKAAQI
                     KEHLLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNIN
                     ITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKT
                     QGLRRFAFPLSLFQGSSDGVEVRYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGL
                     LVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYPLTPEANFTDSTTQS
                     CTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLD
                     QTYLWQGVRVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVIS
                     LHPPDAEEDEDDGEFSDDSGADQEKDKVKMKGYNPAEVGAAGKGYLWKAAGMNMEEEE
                     ELQQNLWGLKINMEEESESESEQSMDSEEPDSRGGSPQMDDIKVFQNEVLGTLQRGKE
                     ENISCDNLVLEINSLKYAYNISLKEVMQVLSHVVLEFPLQQMDSPLDSSRYCALLLPL
                     LKAWSPVFRNYIKRAADHLEALAAIEDFFLEHEALGISMAKVLMAFYQLEILAEETIL
                     SWFSQRDTTDKGQQLRKNQQLQRFIQWLKEAEEESSEDD"
     exon            224..348
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            349..534
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            535..712
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            713..793
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            794..871
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1184
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1330
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1472
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1574
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1682
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1773
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..1897
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1898..2023
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            2024..2134
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     exon            2135..2562
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2542..2547
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /note="hexamer: ATTAAA"
     polyA_site      2562
                     /gene="EIF2B5"
                     /gene_synonym="CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
                     VWM5"
                     /note="major polyA site"
ORIGIN      
        1 gcggaagtgg tgaccgtgag agaagaagat ggcggcccct gtagtggcgc cgcctggtgt
       61 ggtggttagt cgggctaaca agcgcagcgg cgcggggccg ggaggcagcg gtggcggggg
      121 agccagaggg gcggaggagg aaccgccgcc gcccctacaa gcagttctgg tggccgatag
      181 cttcgatcgc cgcttcttcc ccatctccaa ggaccagcct cgggtcctct tgcccctggc
      241 caatgtggca ttaattgact acactctgga attcctgact gccacaggtg tacaggaaac
      301 atttgtcttt tgttgctgga aagctgctca aatcaaagaa catttactga agtcaaagtg
      361 gtgccgccct acatctctca atgtggttcg aataattaca tcagagctct atcgatcact
      421 gggagatgtc ctccgtgatg ttgatgccaa ggctttggtg cgctctgact ttcttctggt
      481 gtatggggat gtcatctcaa acatcaatat caccagagcc cttgaggaac acaggttgag
      541 acggaagcta gaaaaaaatg tttctgtgat gacgatgatc ttcaaggagt catcccccag
      601 ccacccaact cgttgccacg aagacaatgt ggtagtggct gtggatagta ccacaaacag
      661 ggttctccat tttcagaaga cccagggtct ccggcgtttt gcatttcctc tgagcctgtt
      721 tcagggcagt agtgatggag tggaggttcg atatgattta ctggattgtc atatcagcat
      781 ctgttctcct caggtggcac aactctttac agacaacttt gactaccaaa ctcgagatga
      841 ctttgtgcga ggtctcttag tgaatgagga gatcctaggg aaccagatcc acatgcacgt
      901 aacagctaag gaatatggtg cccgtgtctc caacctacac atgtactcag ctgtctgtgc
      961 tgacgtcatc cgccgatggg tctaccctct caccccagag gcgaacttca ctgacagcac
     1021 cacccagagc tgcactcatt cccggcacaa catctaccga gggcctgagg tcagcctggg
     1081 ccatggcagc atcctagagg aaaatgtgct cctgggctct ggcactgtca ttggcagcaa
     1141 ttgctttatc accaacagtg tcattggccc cggctgccac attggtgata acgtggtgct
     1201 ggaccagacc tacctgtggc agggtgttcg agtggcggct ggagcacaga tccatcagtc
     1261 tctgctttgt gacaatgctg aggtcaagga acgagtgaca ctgaaaccac gctctgtcct
     1321 cacttcccag gtggtcgtgg gcccaaatat cacgctgcct gagggctcgg tgatctcttt
     1381 gcaccctcca gatgcagagg aagatgaaga tgatggcgag ttcagtgatg attctggggc
     1441 tgaccaagaa aaggacaaag tgaagatgaa aggttacaat ccagcagaag taggagctgc
     1501 tggcaagggc tacctctgga aagctgcagg catgaacatg gaggaagagg aggaactgca
     1561 gcagaatctg tggggactca agatcaacat ggaagaagag agtgaaagtg aaagtgagca
     1621 aagtatggat tctgaggagc cggacagccg gggaggctcc cctcagatgg atgacatcaa
     1681 agtgttccag aatgaagttt taggaacact acagcggggc aaagaggaga acatttcttg
     1741 tgacaatctc gtcctggaaa tcaactctct caagtatgcc tataacataa gtctaaagga
     1801 ggtgatgcag gtactgagcc acgtggtcct ggagttcccc ctgcaacaga tggattcccc
     1861 gcttgactca agccgctact gtgccctgct gcttcctctg ctaaaggcct ggagccctgt
     1921 ttttaggaac tacataaagc gcgcagccga ccatttggaa gcgttagcag ccattgagga
     1981 cttcttccta gagcatgaag ctcttggtat ttccatggcc aaggtactga tggctttcta
     2041 ccagctggag atcctggctg aggaaacaat tctgagctgg ttcagccaaa gagatacaac
     2101 tgacaagggc cagcagttgc gcaagaatca acagctgcag aggttcatcc agtggctaaa
     2161 agaggcagaa gaggagtcat ctgaagatga ctgaagtcac actgcctgct cctttgggtg
     2221 tgattgagtg ccctcctggc tcctgggctg ggacaagtga ggaactagct gcagagggat
     2281 gagtgaccac catccaggct gagactgaaa ggagcagagg ctggaactac agtattcttt
     2341 cccctgctag caaccatgtg cctcccatcc tgactgtgga gttgggatgt ggaagtgggg
     2401 ctggaacaaa gcttctgcct agggaggagc taagcaggcc cggcagttgg aggaaggcca
     2461 gaggaacagc tttgtgctcc ggctttccct cagggaacag cagagagcag ttggctcttt
     2521 ctgctgcttg tatatgttaa tattaaaaga gagagtggtg ta
//
